Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains

by Kuiper, Roland P., Schepens, Marga, Thijssen, José, Schoenmakers, Eric F. P. M., van Kessel, Ad Geurts
Published 2004

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

by Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Published 2010

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

by Volpi, Ludovica, Roversi, Gaia, Colombo, Elisa Adele, Leijsten, Nico, Concolino, Daniela, Calabria, Andrea, Mencarelli, Maria Antonietta, Fimiani, Michele, Macciardi, Fabio, Pfundt, Rolph, Schoenmakers, Eric F.P.M., Larizza, Lidia
Published 2010

XX Male With Sex Reversal and a De Novo 11;22 Translocation

by Macville, Merryn V.E., Loneus, Wim H., Marcus-Soekarman, Dominique, Huys, Erik H.L.P.G., Schoenmakers, Eric F.P.M., Schrank-Hacker, April, Emanuel, Beverly S., Engelen, John J.M.
Published 2006

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

by Veltman, Joris A., Schoenmakers, Eric F. P. M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Published 2002

Initial Clinical Sensitivity and Acquired Resistance to MET Inhibition in MET-Mutated Papillary Renal Cell Carcinoma

by Diamond, Jennifer R., Salgia, Ravi, Varella-Garcia, Marileila, Kanteti, Rajani, LoRusso, Patricia M., Clark, Jeffrey W., Xu, Ling-Guo, Wilner, Keith, Eckhardt, S. Gail, Ching, Keith A., Lira, Maruja E., Schoenmakers, Eric F.P.M., Christensen, James G., Camidge, D. Ross
Published 2013

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

by Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, van der Vliet, Walter, Huys, Erik, Vermeesch, Joris, Van Buggenhout, Griet, Fryns, Jean-Pierre, Admiraal, Ronald, Terhal, Paulien, Lacombe, Didier, van Kessel, Ad Geurts, Smeets, Dominique, Schoenmakers, Eric F. P. M., van Ravenswaaij-Arts, Conny M.
Published 2003

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization

by Osoegawa, Kazutoyo, Vessere, Gery M., Utami, Kagistia Hana, Mansilla, Maria Adela, Johnson, Marla K., Riley, Bridget M., L’Heureux, Jamie, Pfundt, Rolph, Staaf, Johan, van der Vliet, Walter A., Lidral, Andrew C., Schoenmakers, Eric F. P. M., Borg, Ake, Schutte, Brian C., Lammer, Edward J., Murray, Jeffrey C., de Jong, Pieter J.
Published 2007

Diagnostic Genome Profiling in Mental Retardation

by de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Published 2005

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

by Vissers, Lisenka E. L. M. , de Vries, Bert B. A. , Osoegawa, Kazutoyo , Janssen, Irene M. , Feuth, Ton , Choy, Chik On , Straatman, Huub , van der Vliet, Walter , Huys, Erik H. L. P. G. , van Rijk, Anke , Smeets, Dominique , van Ravenswaaij-Arts, Conny M. A. , Knoers, Nine V. , van der Burgt, Ineke , de Jong, Pieter J. , Brunner, Han G. , van Kessel, Ad Geurts , Schoenmakers, Eric F. P. M. , Veltman, Joris A. 
Published 2003